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Article

Amelogenesis imperfecta: genotype-phenotype studies in 71 families.

Cells, tissues, organs - 1 Jan 2011

Wright J Timothy, Torain Melody, Long Kimberly, Seow Kim, Crawford Peter, Aldred Michael J, Hart P Suzanne, Hart Tom C

Abstract excerpt

Amelogenesis imperfecta (AI) represents hereditary conditions affecting the quality and quantity of enamel. Six genes are known to cause AI (AMELX, ENAM, MMP20, KLK4, FAM83H, and WDR72). Our aim was to determine the distribution of different gene mutations in a large AI population and evaluate phenotype-genotype relationships. Affected and unaffected family members were evaluated clinically and radiographically...

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Source

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Identifiers

PMID: 21597265
DOI: 10.1159/000324339
PMCID: PMC3178091

Genes

AMELX
KLK4
ENAM
MMP20

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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